Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Mendeliome v1.2364 KIAA1549 Zornitza Stark Marked gene: KIAA1549 as ready
Mendeliome v1.2364 KIAA1549 Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence).
Mendeliome v1.2364 KIAA1549 Zornitza Stark Classified gene: KIAA1549 as Green List (high evidence)
Mendeliome v1.2364 KIAA1549 Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence).
Mendeliome v1.2363 KIAA1549 Sangavi Sivagnanasundram gene: KIAA1549 was added
gene: KIAA1549 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1549 were set to 30120214; 34027671
Phenotypes for gene: KIAA1549 were set to retinitis pigmentosa 86 MONDO:0032834
Review for gene: KIAA1549 was set to GREEN
Added comment: Classified as STRONG by ClinGen Retina GCEP on 18/02/2025 - https://search.clinicalgenome.org/CCID:008708

Reported in 5 probands with RP - Green according to PanelApp
Sources: ClinGen